
A novel homozygous exon 2 deletion of TRIM32 gene in patient with sarcotubular myopathy – case report
Background Sarcotubular myopathy (STM) is a rare autosomal recessive disease characterized predominantly by weakness of the proximal limb. Mutations in the TRIM32 gene are often associated with STM and the limb-girdle muscular dystrophy R8 (LGMDR8). […]